KEGG DISEASE: Acid-labile subunit deficiency

KEGG

DISEASE: Acid-labile subunit deficiency

Entry

H01907                      Disease

Name

Acid-labile subunit deficiency

Description

Acid-labile subunit (ALS) deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation. ALS, encoded by the IGFALS gene, is mainly produced by the liver. The patients were found to be carriers for IGFALS gene mutations. ALS protein is a key component of the circulating IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain other specified disorders of pituitary gland
     H01907  Acid-labile subunit deficiency

Gene

IGFALS [HSA:3483] [KO:K17256]

Comment

See also H00254 Pituitary Dwarfism.

Other DBs

ICD-11:

OMIM:

Reference

Authors

Domene HM, Hwa V, Jasper HG, Rosenfeld RG

Title

Acid-labile subunit (ALS) deficiency.

Journal

Best Pract Res Clin Endocrinol Metab 25:101-13 (2011)
DOI:10.1016/j.beem.2010.08.010

Reference

Authors

Boisclair YR, Rhoads RP, Ueki I, Wang J, Ooi GT

Title

The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system.

Journal

J Endocrinol 170:63-70 (2001)
DOI:10.1677/joe.0.1700063

Reference

Authors

Heath KE, Argente J, Barrios V, Pozo J, Diaz-Gonzalez F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A

Title

Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.

Journal

J Clin Endocrinol Metab 93:1616-24 (2008)
DOI:10.1210/jc.2007-2678

Reference

Authors

Domene HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarras P, Gutierrez M, Jasper HG

Title

Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.

Journal

J Clin Endocrinol Metab 92:4444-50 (2007)
DOI:10.1210/jc.2007-1152

LinkDB

» Japanese version

DBGET integrated database retrieval system